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Cobalamin C defect associated with hemolytic-uremic syndrome
M T Geraghty1, E J Perlman, L S Martin
1Department of Pediatrics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
The Journal of Pediatrics
|June 1, 1992
Summary
Cobalamin C deficiency can cause methylmalonic aciduria and homocystinuria. This rare genetic disorder may also lead to hemolytic-uremic syndrome, impacting multiple organs.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Cobalamin C deficiency is an inborn error of metabolism affecting vitamin B12 pathways.
- It leads to combined methylmalonic aciduria and homocystinuria, impacting amino acid and fatty acid metabolism.
Observation:
- A female infant presented with classic signs of cobalamin C deficiency.
- The infant also developed hemolytic-uremic syndrome (HUS), characterized by thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure.
Findings:
- The presented case and literature review suggest HUS is a recognized clinical manifestation of cobalamin C defect.
- This indicates HUS is part of the broader phenotypic spectrum of this metabolic disorder.
Implications:
- Recognizing HUS in cobalamin C deficiency is crucial for timely diagnosis and management.
- This expands the understanding of inborn errors of cobalamin metabolism and their associated complications.